Gillessen-Kaesbach-Nishimura Syndrome (GIKANIS)

Gillessen-Kaesbach-Nishimura Syndrome, also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia, is related to polycystic kidney disease 1 with or without polycystic liver disease and atrioventricular septal defect. An important gene associated with Gillessen-Kaesbach-Nishimura Syndrome is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase). Affiliated tissues include kidney and lung, and related phenotypes are short neck and smooth philtrum